view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESR1_chr6_151802682_152108274 | 151958973 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 NA18612.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0044 a0001c0001t0002g0117 a0001c0001t0003g0092 others(4): Show |
7 | 250 | 0.0280 | 24 | c.109 others(45): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0367 |
2 | 374 | 0.0054 | 24 | c.-47 others(35): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGGGGGTG others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0354 | 1 | 374 | 0.0027 | 24 | c.932 others(39): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGGGTGTG others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 |
3 | 374 | 0.0080 | 24 | c.932 others(39): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0363 a0001c0007t0001g0344 a0001c0007t0001g0346 |
3 | 374 | 0.0080 | 24 | c.932 others(39): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76485626 | T | TGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0135 | 1 | 318 | 0.0031 | 24 | c.850 others(41): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76485663 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 318 | 0.0031 | 24 | c.850 others(41): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76489445 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0155 a0001c0001t0002g0029 a0001c0001t0002g0031 others(8): Show |
11 | 318 | 0.0346 | 24 | c.851 others(41): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216511547 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00738.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 a0001c0002t0002g0056 a0001c0002t0002g0066 others(16): Show |
19 | 286 | 0.0664 | 24 | c.113 others(43): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516636 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0092 | 1 | 286 | 0.0035 | 24 | c.113 others(43): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | 286 | 0.0070 | 24 | c.113 others(43): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216569111 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02809.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0004a0001c0010t0002 | a0001c0002t0004g0270 a0001c0010t0002g0004 |
2 | 286 | 0.0070 | 24 | c.590 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216569111 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02922.hp1 HG03688.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0159 a0001c0001t0005g0023 others(4): Show |
7 | 286 | 0.0245 | 24 | c.590 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216682709 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01993.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0239 others(2): Show |
5 | 286 | 0.0175 | 24 | c.57- others(39): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216689822 | G | GCAACACT others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0005a0001c0006t0010a0001c0006t0023others(1): Show | a0001c0006t0005g0093 a0001c0006t0010g0009 a0001c0006t0023g0011 others(3): Show |
6 | 286 | 0.0210 | 24 | c.57- others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ESX1_chrX_104245038_104259933 | 104256122 | T | TTAAAAGT others(17): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0032 | a0032c0038 | a0032c0038t0001 | a0032c0038t0001g0077 | 1 | 313 | 0.0032 | 24 | c.-12 others(35): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 1190 | chrX | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158806058 | C | CGGCGCCG others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00735.hp1 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0028a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(14): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(60): Show |
63 | 370 | 0.1703 | 24 | c.331 others(41): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158806122 | C | CGTGTGGG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(151): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(149): Show |
154 | 370 | 0.4162 | 24 | c.331 others(41): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158806127 | G | GGGAGGCG others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0014 | a0001c0014t0015 | a0001c0014t0015g0173 a0001c0014t0015g0174 |
2 | 370 | 0.0054 | 24 | c.331 others(41): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 334 | 0.0030 | 24 | c.*70 others(35): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 334 | 0.0030 | 24 | c.732 others(39): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0167 |
2 | 334 | 0.0060 | 24 | c.732 others(39): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76272813 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0241 others(1): Show |
4 | 336 | 0.0119 | 24 | c.816 others(41): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01256.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0138 a0001c0001t0002g0174 a0001c0001t0002g0187 others(3): Show |
6 | 336 | 0.0179 | 24 | c.40- others(37): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02717.hp2 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0207 a0001c0001t0002g0208 a0002c0002t0004g0254 |
3 | 336 | 0.0089 | 24 | c.39+ others(39): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108741276 | T | TTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0300 | 1 | 378 | 0.0027 | 24 | c.*12 others(35): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 776 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108741303 | T | TGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 378 | 0.0027 | 24 | c.*11 others(35): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 749 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108753749 | T | TAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01256.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0175 a0001c0001t0001g0182 others(12): Show |
16 | 378 | 0.0423 | 24 | c.502 others(39): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
ETV1_chr7_13886229_13994666 | 13896743 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01978.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0024 | a0001c0001t0004g0249 a0001c0001t0006g0088 a0001c0001t0006g0280 others(1): Show |
4 | 320 | 0.0125 | 24 | c.121 others(41): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 438 | 0.0046 | 24 | c.-32 others(35): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | |||||||
ETV4_chr17_43522846_43551340 | 43543276 | A | ACTCTCCC others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02698.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0089 |
3 | 398 | 0.0075 | 24 | c.202 others(41): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
ETV4_chr17_43522846_43551340 | 43543296 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 398 | 0.0025 | 24 | c.202 others(41): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11669373 | T | TCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01496.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0018 a0001c0001t0003g0015 a0001c0001t0003g0021 others(14): Show |
17 | 262 | 0.0649 | 24 | c.33+ others(41): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11690886 | C | CTAAATAA others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0034 | a0001c0001t0003g0185 a0001c0001t0006g0037 a0001c0002t0034g0222 others(1): Show |
4 | 262 | 0.0153 | 24 | c.33+ others(41): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11784862 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0150 | 1 | 262 | 0.0038 | 24 | c.163 others(43): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555301 | A | ATCTCTCT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02965.hp2 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0002t0007g0154 |
3 | 384 | 0.0078 | 24 | c.-19 others(43): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0032 | a0002c0003t0032g0358 | 1 | 384 | 0.0026 | 24 | c.-19 others(43): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0009 | a0001c0001t0002g0279 a0001c0001t0002g0321 a0001c0001t0002g0322 others(7): Show |
10 | 384 | 0.0260 | 24 | c.-19 others(43): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32421167 | G | GAGTGGTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0049 others(160): Show |
163 | 346 | 0.4711 | 24 | c.160 others(41): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32477743 | C | ACCTCCCC others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03834.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0340 a0001c0003t0001g0272 |
2 | 346 | 0.0058 | 24 | c.634 others(41): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | chr21 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32503549 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0049 others(19): Show |
22 | 346 | 0.0636 | 24 | c.860 others(39): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32516114 | T | TTCCAATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0310 | 1 | 346 | 0.0029 | 24 | c.*92 others(33): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 728 | chr21 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0073 | 1 | 292 | 0.0034 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0029 | a0029c0065 | a0029c0065t0001 | a0029c0065t0001g0130 | 1 | 292 | 0.0034 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02132.hp1 |
a0005a0010 | a0005c0004a0010c0021 | a0005c0004t0002a0010c0021t0003 | a0005c0004t0002g0080 a0005c0004t0002g0081 a0010c0021t0003g0017 |
3 | 292 | 0.0103 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18988.hp2 NA20905.hp2 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0002 | a0001c0001t0001g0074 a0005c0004t0002g0112 |
2 | 292 | 0.0069 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0089 | 1 | 292 | 0.0034 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0106 | 1 | 292 | 0.0034 | 24 | c.114 others(43): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706417 | G | GATAGATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG02293.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0001 | a0001c0002t0003g0272 a0002c0003t0001g0273 |
2 | 369 | 0.0054 | 24 | c.-49 others(35): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4783 | chr4 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92669547 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0103 others(3): Show |
6 | 168 | 0.0357 | 24 | c.115 others(43): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 10/19 | chr1 | TogoVar |